FATTY ACID PROFILE IN SUSPECTED METABOLIC CASES

Abstract

Fatty acid oxidation disorders represent an expanding group of inborn errors of metabolism. Cli!]ical manifestations include episodic encephalopathy, hypoketotic hypoglycaemia , Reye like episodes ; hepatic , muscular and cardiac affection and sudden death.. Analysis of urinary organic acids and plasma fatty acids of 44 clinically suspected patients by Gas Chromatography-Mass spectrometry revealed 4 cases of Medium chain acyl-CoA dehydrogenase deficiency, 3 cases o[ Very long chain acyl-CoA dehydrogenase deficiency, 9 cases of Multiple defects of acyl-CoA dehydrogenation in addition to 3 patients with other metabolic disorders..• Timely detection of these disorders including screening for MCADD can have a favorable impact on the outcome of these patients.